Canonical Allele Identifier: CA396557527
Gene: AARS1 HGNC NCBI

Linked Data

dbSNP Id: rs115882953

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.70258044G>C , CM000678.2:g.70258044G>C GRCh38
NC_000016.9:g.70291947G>C , CM000678.1:g.70291947G>C GRCh37
NC_000016.8:g.68849448G>C NCBI36
NG_023191.1:g.36466C>G , LRG_359:g.36466C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000261772.13:c.2166C>G MANE Select ENSP00000261772.8:p.Phe722Leu
ENST00000564359.6:n.2150+936C>G
ENST00000565361.3:c.2166C>G ENSP00000455360.3:p.Phe722Leu
ENST00000674512.1:c.2145C>G ENSP00000501613.1:p.Phe715Leu
ENST00000674652.1:c.*1955C>G ENSP00000502620.1:n.*1955C>G
ENST00000674691.1:c.2166C>G ENSP00000502247.1:p.Phe722Leu
ENST00000674768.1:c.*421C>G ENSP00000501679.1:n.*421C>G
ENST00000674811.1:c.*359C>G ENSP00000502055.1:n.*359C>G
ENST00000674848.1:n.2215C>G
ENST00000674962.1:n.2324C>G
ENST00000674963.1:c.2166C>G ENSP00000501924.1:p.Phe722Leu
ENST00000675035.1:c.2157+9C>G ENSP00000502712.1:n.2157+9C>G
ENST00000675045.1:c.2193C>G ENSP00000502014.1:p.Phe731Leu
ENST00000675120.1:c.*476C>G ENSP00000502823.1:n.*476C>G
ENST00000675133.1:c.2139C>G ENSP00000502230.1:p.Phe713Leu
ENST00000675270.1:n.2301C>G
ENST00000675297.1:c.*518C>G ENSP00000502753.1:n.*518C>G
ENST00000675371.1:c.1992+936C>G ENSP00000502645.1:n.1992+936C>G
ENST00000675403.1:n.3086C>G
ENST00000675569.1:c.*1400C>G ENSP00000502534.1:n.*1400C>G
ENST00000675643.1:c.2166C>G ENSP00000502797.1:p.Phe722Leu
ENST00000675691.1:c.2037C>G ENSP00000502196.1:p.Phe679Leu
ENST00000675751.1:c.*1193C>G ENSP00000502277.1:n.*1193C>G
ENST00000675853.1:c.2166C>G ENSP00000502367.1:p.Phe722Leu
ENST00000675917.1:n.2463C>G
ENST00000675953.1:c.2082C>G ENSP00000502321.1:p.Phe694Leu
ENST00000675986.1:n.2324C>G
ENST00000676004.1:c.*2165C>G ENSP00000502765.1:n.*2165C>G
ENST00000676040.1:c.*1400C>G ENSP00000502108.1:n.*1400C>G
ENST00000676168.1:c.1992+936C>G ENSP00000502479.1:n.1992+936C>G
ENST00000676209.1:c.*518C>G ENSP00000502052.1:n.*518C>G
ENST00000676211.1:c.*1193C>G ENSP00000502726.1:n.*1193C>G
ENST00000676212.1:c.2166C>G ENSP00000501853.1:p.Phe722Leu
ENST00000676247.1:c.*518C>G ENSP00000502699.1:n.*518C>G
ENST00000261772.12:c.2166C>G ENSP00000261772.7:p.Phe722Leu
ENST00000564359.5:n.488+936C>G
ENST00000565361.2:c.511C>G
ENST00000569825.1:n.172C>G
NM_001605.2:c.2166C>G , LRG_359t1:c.2166C>G NP_001596.2:p.Phe722Leu
XR_933220.1:n.2143+936C>G
XR_933220.3:n.2102+936C>G
NM_001605.3:c.2166C>G MANE Select NP_001596.2:p.Phe722Leu